TNNI1 (Troponin I, slow skeletal muscle) variants and mutations

TNNI1 (also known as Troponin I, slow skeletal muscle) is a human protein-coding gene encoding a troponin I, slow skeletal muscle protein. It provides the inhibitory troponin subunit in slow skeletal muscle, restraining actin-myosin interaction when calcium is low. Pathogenic human disease associations are limited compared with cardiac troponin genes, but altered function can affect skeletal-muscle contractile regulation. This analysis covers 367 TNNI1 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes neurodegenerative disease, diaphragm disorder, and Blount disease. Example TNNI1 variants include P2L, V4I, and E5D.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable TNNI1 variants

Examples include P2L, V4I, E5D, E5K, E5V, R6G, K7E, P8H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.